ClinVar for Gene (Select 10142) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 3533

<< First< Prev

Page of 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4613454	NM_005751.5(AKAP9):c.6383T>A (p.Leu2128His)	AKAP9 (L343H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613453	NM_005751.5(AKAP9):c.8062T>C (p.Phe2688Leu)	AKAP9 (F2680L +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 4613452	NM_005751.5(AKAP9):c.160G>T (p.Asp54Tyr)	AKAP9 (D54Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613451	NM_005751.5(AKAP9):c.11050T>G (p.Ser3684Ala)	AKAP9 (S3684A +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 4613450	NM_005751.5(AKAP9):c.7969C>A (p.Gln2657Lys)	AKAP9 (Q2649K +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613449	NM_005751.5(AKAP9):c.9902T>A (p.Leu3301His)	AKAP9 (L3293H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613447	NM_005751.5(AKAP9):c.10318A>G (p.Met3440Val)	AKAP9 (M3440V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613446	NM_005751.5(AKAP9):c.8308C>G (p.Leu2770Val)	AKAP9 (L2762V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613445	NM_005751.5(AKAP9):c.6115G>A (p.Glu2039Lys)	AKAP9 (E2039K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613444	NM_005751.5(AKAP9):c.8173A>G (p.Asn2725Asp)	AKAP9 (N940D +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613443	NM_005751.5(AKAP9):c.1721A>C (p.Glu574Ala)	AKAP9 (E574A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613442	NM_005751.5(AKAP9):c.1485A>G (p.Ile495Met)	AKAP9 (I495M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613441	NM_005751.5(AKAP9):c.8708G>T (p.Ser2903Ile)	AKAP9 (S2895I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613440	NM_005751.5(AKAP9):c.8823G>T (p.Lys2941Asn)	AKAP9 (K2941N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613438	NM_005751.5(AKAP9):c.7854G>C (p.Met2618Ile)	AKAP9 (M2618I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613437	NM_005751.5(AKAP9):c.5137C>T (p.Pro1713Ser)	AKAP9 (P1713S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613436	NM_005751.5(AKAP9):c.5490T>G (p.Phe1830Leu)	AKAP9 (F1830L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613435	NM_005751.5(AKAP9):c.5488T>G (p.Phe1830Val)	AKAP9 (F1830V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613434	NM_005751.5(AKAP9):c.388C>T (p.Pro130Ser)	AKAP9 (P130S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613433	NM_005751.5(AKAP9):c.7846G>A (p.Val2616Ile)	AKAP9 (V2616I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613431	NM_005751.5(AKAP9):c.1919T>A (p.Leu640Gln)	AKAP9 (L640Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613430	NM_005751.5(AKAP9):c.1163G>A (p.Arg388Lys)	AKAP9 (R388K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613429	NM_005751.5(AKAP9):c.10486G>C (p.Ala3496Pro)	AKAP9 (A3496P +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 4613427	NM_005751.5(AKAP9):c.4329A>C (p.Glu1443Asp)	AKAP9 (E1443D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613426	NM_005751.5(AKAP9):c.1676A>G (p.Asn559Ser)	AKAP9 (N559S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613425	NM_005751.5(AKAP9):c.2982T>C (p.Cys994=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 4613424	NM_005751.5(AKAP9):c.10855C>G (p.Gln3619Glu)	AKAP9 (Q3611E +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613423	NM_005751.5(AKAP9):c.4570C>A (p.His1524Asn)	AKAP9 (H1524N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613422	NM_005751.5(AKAP9):c.4154C>T (p.Pro1385Leu)	AKAP9 (P1385L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613421	NM_005751.5(AKAP9):c.8602T>A (p.Cys2868Ser)	AKAP9 (C2860S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613420	NM_005751.5(AKAP9):c.1830G>A (p.Val610=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 4613418	NM_005751.5(AKAP9):c.5790A>G (p.Glu1930=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 4613417	NM_005751.5(AKAP9):c.7119T>C (p.Asn2373=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 4613416	NM_005751.5(AKAP9):c.1805T>G (p.Met602Arg)	AKAP9 (M602R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613415	NM_005751.5(AKAP9):c.7186C>T (p.Leu2396=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 4613414	NM_005751.5(AKAP9):c.7716A>G (p.Gln2572=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 4613413	NM_005751.5(AKAP9):c.9591A>G (p.Lys3197=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 4613412	NM_005751.5(AKAP9):c.2593C>G (p.Gln865Glu)	AKAP9 (Q865E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 4613411	NM_005751.5(AKAP9):c.82G>C (p.Asp28His)	AKAP9 (D28H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613410	NM_005751.5(AKAP9):c.9113G>T (p.Arg3038Leu)	AKAP9 (R3030L +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613408	NM_005751.5(AKAP9):c.-2C>A	AKAP9, LOC129998788	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613407	NM_005751.5(AKAP9):c.5265G>T (p.Gly1755=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 4613406	NM_005751.5(AKAP9):c.9482_9484dup (p.Val3161_Ala3162insVal)	AKAP9	Duplication (inframe_insertion +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 4613405	NM_005751.5(AKAP9):c.11573A>G (p.Asn3858Ser)	AKAP9 (N3858S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613404	NM_005751.5(AKAP9):c.9681G>C (p.Glu3227Asp)	AKAP9 (E3227D +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613403	NM_005751.5(AKAP9):c.2040C>A (p.Thr680=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 4613401	NM_005751.5(AKAP9):c.690G>T (p.Glu230Asp)	AKAP9 (E230D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613400	NM_005751.5(AKAP9):c.8146C>G (p.Gln2716Glu)	AKAP9 (Q2708E +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 4613399	NM_005751.5(AKAP9):c.2054A>C (p.Lys685Thr)	AKAP9 (K685T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613398	NM_005751.5(AKAP9):c.4943T>G (p.Leu1648Arg)	AKAP9, LOC121175350 (L1648R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613397	NM_005751.5(AKAP9):c.8350G>T (p.Gly2784Trp)	AKAP9 (G2784W +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613396	NM_005751.5(AKAP9):c.3738A>G (p.Arg1246=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613395	NM_005751.5(AKAP9):c.11685A>G (p.Ser3895=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613393	NM_005751.5(AKAP9):c.8815T>C (p.Phe2939Leu)	AKAP9 (F1154L +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613392	NM_005751.5(AKAP9):c.9451C>G (p.Gln3151Glu)	AKAP9 (Q3151E +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613391	NM_005751.5(AKAP9):c.10038A>G (p.Lys3346=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 4613390	NM_005751.5(AKAP9):c.4803_4805del (p.His1601del)	AKAP9 (H1601del)	Deletion (inframe_deletion)	Cardiovascular phenotype	GUncertain significance
Select item 4613389	NM_005751.5(AKAP9):c.11235G>A (p.Gly3745=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 4613388	NM_005751.5(AKAP9):c.1379T>C (p.Met460Thr)	AKAP9 (M460T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 4613387	NM_005751.5(AKAP9):c.9574T>C (p.Phe3192Leu)	AKAP9 (F3192L +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613386	NM_005751.5(AKAP9):c.10776T>C (p.Asn3592=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 4613385	NM_005751.5(AKAP9):c.2772A>C (p.Val924=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 4613384	NM_005751.5(AKAP9):c.4960A>T (p.Arg1654Trp)	AKAP9, LOC121175350 (R1654W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613383	NM_005751.5(AKAP9):c.777A>G (p.Thr259=)	AKAP9, LOC129998789	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 4613382	NM_005751.5(AKAP9):c.5135T>C (p.Val1712Ala)	AKAP9 (V1712A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613381	NM_005751.5(AKAP9):c.3361T>A (p.Ser1121Thr)	AKAP9 (S1121T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613380	NM_005751.5(AKAP9):c.8395G>A (p.Val2799Ile)	AKAP9 (V2791I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613379	NM_005751.5(AKAP9):c.9314A>C (p.Lys3105Thr)	AKAP9 (K3105T +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613378	NM_005751.5(AKAP9):c.5807G>A (p.Arg1936Lys)	AKAP9 (R1936K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 4613376	NM_005751.5(AKAP9):c.6210T>C (p.Asp2070=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 4613374	NM_005751.5(AKAP9):c.10407G>A (p.Thr3469=)	AKAP9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 4534585	NM_005751.5(AKAP9):c.8294G>A (p.Cys2765Tyr)	AKAP9 (C2757Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4534207	NM_005751.5(AKAP9):c.11686+51G>A	AKAP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 4340549	NM_005751.5(AKAP9):c.11687-20T>G	AKAP9	Single nucleotide variant (intron variant)	Not Specified
Select item 4340548	NM_005751.5(AKAP9):c.11547-1G>T	AKAP9	Single nucleotide variant (splice acceptor variant)	Not Specified
Select item 4340547	NM_005751.5(AKAP9):c.11519T>G (p.Ile3840Ser)	AKAP9 (I2055S +2 more)	Single nucleotide variant (missense variant)	Not Specified
Select item 4340546	NM_005751.5(AKAP9):c.11331-168C>A	AKAP9	Single nucleotide variant (intron variant)	Not Specified
Select item 4340545	NM_005751.5(AKAP9):c.11098-1G>C	AKAP9	Single nucleotide variant (splice acceptor variant)	Not Specified
Select item 4340544	NM_005751.5(AKAP9):c.11098-17C>G	AKAP9	Single nucleotide variant (intron variant)	Not Specified
Select item 4340543	NM_005751.5(AKAP9):c.10897-55G>C	AKAP9	Single nucleotide variant (intron variant)	Not Specified
Select item 4340542	NM_005751.5(AKAP9):c.10714-34G>T	AKAP9	Single nucleotide variant (intron variant)	Not Specified
Select item 4340541	NM_005751.5(AKAP9):c.10370G>A (p.Arg3457Lys)	AKAP9 (R3457K +2 more)	Single nucleotide variant (missense variant)	Not Specified
Select item 4340540	NM_005751.5(AKAP9):c.9712G>T (p.Asp3238Tyr)	AKAP9 (D1453Y +2 more)	Single nucleotide variant (missense variant)	Not Specified
Select item 4340539	NM_005751.5(AKAP9):c.9579-2A>T	AKAP9	Single nucleotide variant (splice acceptor variant)	Not Specified
Select item 4340538	NM_005751.5(AKAP9):c.9145C>G (p.Leu3049Val)	AKAP9 (L1264V +2 more)	Single nucleotide variant (missense variant)	Not Specified
Select item 4340537	NM_005751.5(AKAP9):c.9024+1G>A	AKAP9	Single nucleotide variant (splice donor variant)	Not Specified
Select item 4340536	NM_005751.5(AKAP9):c.8711-7A>T	AKAP9	Single nucleotide variant (intron variant)	Not Specified
Select item 4340535	NM_005751.5(AKAP9):c.8646+2T>G	AKAP9	Single nucleotide variant (splice donor variant)	Not Specified
Select item 4340534	NM_005751.5(AKAP9):c.8646+2T>A	AKAP9	Single nucleotide variant (splice donor variant)	Not Specified
Select item 4340533	NM_005751.5(AKAP9):c.8161-1G>T	AKAP9	Single nucleotide variant (splice acceptor variant)	Not Specified
Select item 4340532	NM_005751.5(AKAP9):c.7958A>G (p.Asn2653Ser)	AKAP9 (N868S +2 more)	Single nucleotide variant (missense variant)	Not Specified
Select item 4340531	NM_005751.5(AKAP9):c.7818G>C (p.Leu2606Phe)	AKAP9 (L2598F +2 more)	Single nucleotide variant (missense variant)	Not Specified
Select item 4340530	NM_005751.5(AKAP9):c.7246C>A (p.Leu2416Ile)	AKAP9 (L2416I +2 more)	Single nucleotide variant (missense variant)	Not Specified
Select item 4340529	NM_005751.5(AKAP9):c.6766-131A>T	AKAP9	Single nucleotide variant (intron variant)	Not Specified
Select item 4340528	NM_005751.5(AKAP9):c.6507+28A>G	AKAP9	Single nucleotide variant (intron variant)	Not Specified
Select item 4340527	NM_005751.5(AKAP9):c.5778C>G (p.Gly1926=)	AKAP9	Single nucleotide variant (synonymous variant)	Not Specified
Select item 4340526	NM_005751.5(AKAP9):c.5368+23A>T	AKAP9	Single nucleotide variant (intron variant)	Not Specified
Select item 4340525	NM_005751.5(AKAP9):c.5368+2T>C	AKAP9	Single nucleotide variant (splice donor variant)	Not Specified
Select item 4340524	NM_005751.5(AKAP9):c.5163-1G>T	AKAP9	Single nucleotide variant (splice acceptor variant)	Not Specified
Select item 4340523	NM_005751.5(AKAP9):c.5163-2A>T	AKAP9	Single nucleotide variant (splice acceptor variant)	Not Specified

<< First< Prev

Page of 36